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Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1
H Antoun1, N Villeneuve, A Gelot
1Service de Radiopédiatrie, Hôpital St Vincent de Paul, Paris, France.
Insights
Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS 1) can cause cerebellar atrophy in children under two. Early diagnosis via MRI and biological tests is crucial for managing this rare metabolic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS 1) is a rare autosomal recessive metabolic disorder.
- CDGS 1 affects multiple systems due to defects in glycoprotein synthesis.
- Cerebellar atrophy is a potential neurological complication.
Observation:
- Three children under two years old presented with cerebellar atrophy.
- One patient exhibited multisystem disease; two had mental retardation and ataxia.
- Cerebellar atrophy predominantly involved the anterior lobe.
Findings:
- Magnetic resonance imaging (MRI) diagnosed cerebellar atrophy in all cases.
- Autopsy confirmed cerebellar atrophy in one patient.
- Vertical tentorium cerebelli orientation suggested antenatal onset in two cases.
- Biological tests confirmed CDGS 1 diagnosis.
Implications:
- Early identification of CDGS 1 is vital for pediatric neurological care.
- MRI is a key diagnostic tool for detecting cerebellar atrophy in CDGS 1.
- Understanding antenatal disease onset aids in prognosis and management strategies.
Abstract:
We report three children, all younger than 2 years of age, presenting with cerebellar atrophy related to carbohydrate-deficient glycoprotein syndrome type 1, an autosomal recessive metabolic disease. One patient had multisystem disease; two others had mental retardation with ataxia. In all cases the cerebellar atrophy was diagnosed on magnetic resonance imaging and, in one case, confirmed by autopsy. The cerebellar atrophy predominantly affected the anterior lobe. Vertical orientation of the tentorium cerebelli from the neonatal period in two cases suggests antenatal onset of the disease. Biological tests confirmed the diagnosis in all cases.